Disease report

Tree Display

AceDB Schema

XML Display


Disease Report for: Susceptibility to Hypertriglyceridemia

Alternative name(s)|
Mutation|1 mutation:
OMIM: |145750, 609252

Wen et al. (2003) identified 2 Caucasian hypertriglyceridemic individuals who were heterozygous for a G-to-A transition at nucleotide 164 of the LIPI gene, resulting in cys55-to-tyr (C55Y; 609252.0001) substitution. They identified 2 other coding SNPs that were associated with variation in plasma HDL cholesterol in independent normolipidemic populations.However Hamosh (2019) noted that the C55Y (C76Y) variant was present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (June 25, 2019)

    Title: Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans
    Wen XY, Hegele RA, Wang J, Wang DY, Cheung J, Wilson M, Yahyapour M, Bai Y, Zhuang L and Stewart AK <5 more author(s)>
    Ref: Hum Mol Genet, 12:1131, 2003 : PubMed


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
For technical information about these pages see:
ESTHER Home Page and ACEDB Home Page
AcePerl Lincoln Stein Home Page

Acknowledgements and disclaimer